Search

Your search keyword '"Rigoli, Luciana Concetta"' showing total 85 results
Start Over Author "Rigoli, Luciana Concetta"
Sorry, I don't understand your search. ×
85 results on '"Rigoli, Luciana Concetta"'

4. Comment on 'deferiprone versus deferoxamine in thalassemia intermedia: results from a 5-year long-term Italian multicenter randomized clinical trial'

Author

Calvaruso, Giuseppina, Vitrano, Angela, Di Maggio, Rosario, Lai, Eliana, Colletta, Grazia, Quota, Alessandra, Gerardi, Calogera, Rigoli, Luciana Concetta, Sacco, Massimiliano, Pitrolo, Lorella, and Maggio, Aurelio

Subjects
Male, Pediatrics, medicine.medical_specialty, Iron Overload, business.industry, Pyridones, beta-Thalassemia, Hematology, Deferoxamine, Iron Chelating Agents, law.invention, Term (time), chemistry.chemical_compound, Thalassemia intermedia, deferiprone, deferoxamine, studio multicentrico, Randomized controlled trial, chemistry, law, medicine, Humans, Female, Thalassemia intermedia, Deferiprone, business, medicine.drug
Published
2015

5. Prevalence of Deafness-Associated Connexin-26 (GJB2) and Connexin-30 (GJB6) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily

Author

Amorini, Maria, Romeo, Petronilla, Bruno, Rocco, Galletti, Francesco, Di Bella, Chiara, Longo, Patrizia, Briuglia, Silvana, SALPIETRO DAMIANO, Carmelo, and Rigoli, Luciana Concetta

Subjects
Eastern Sicily population, prevalance of connexin-26 (GJB2) and connexin-30 (GJB6) allelic variants, nonsyndromic hearing loss, Eastern Sicily population, prevalance of connexin-26 (GJB2) and connexin-30 (GJB6) allelic variants, nonsyndromic hearing loss
Abstract

Mutations in the gene encoding the gap junction protein connexin 26 (GJB2) and connexin 30 (GJB6) have been shown to be a major contributor to prelingual, sensorineural, nonsyndromic deafness. The aim of this study was to characterize and establish the prevalence of GJB2 and GJB6 gene alterations in 196 patients affected by sensorineural, nonsyndromic hearing loss, from Eastern Sicily. We performed sequence analysis of GJB2 and identified sequence variants in 68 out of 196 patients (34.7%); (28 homozygous for c.35delG, 22 compound heterozygous and 11 with only one variant allele). We found 12 different allelic variants, the most prevalent being c.35delG, which was found on 89 chromosomes (65.5%), followed by other alleles with different frequencies (p.E47X, c.-23+1GA, p.L90P, p.R184W, p.M34T, c.167delT, p.R127H, p.M163V, p.V153I, p.W24X, and p.T8M). Importantly, for the first time we present the frequency and spectrum of GJB2 mutations in NSHL patients from Eastern Sicily. No alterations were found in the GJB6 gene, confirming that alterations in this gene are uncommon in our geographic area. Note that 65.3% and 23.5% of our patients, respectively were found to be negative or carriers by GJB2 molecular screening. This emphasizes the need to broaden the genetic analysis to other genes involved in hearing loss.

Published
2014

9. Due casi di carcinoma tiroideo in pazienti affetti da talassemia

Author

Camarda, N., Piraino, B., Moschella, E., La Rosa, M. A., Cutrupi, M. C., Calabrò, G. E., Alterio, T., Centorrino, R., Costa, A., Morabito, G., Pizzino, M. R., Manti, S., SALPIETRO DAMIANO, Carmelo, Rigoli, Luciana Concetta, and Arrigo, Teresa

Published
2012

10. Serum IL-23 strongly and inversely correlates with FEV1 in asthmatic children

Author

Ciprandi, G, Cuppari, C, Salpietro, Am, Tosca, Ma, Rigoli, Luciana Concetta, Grasso, L, La Rosa, M, Marseglia, Gl, Del Giudice MM, and SALPIETRO DAMIANO, Carmelo

Subjects
Male, Adolescent, Interleukin-23, Asthma, IL-23, Th17, Case-Control Studies, Child, Preschool, Forced Expiratory Volume, Humans, Th17 Cells, Female, Child, Lung, Biomarkers
Abstract

Recently, Th17 cells have been found to participate in the pathogenesis of allergic asthma. IL-23 is a cytokine that may be implicated in modulating Th17 response. This study aimed at evaluating IL-23 and relating it to lung function in asthmatic children.Seventy-eight asthmatic children and 40 healthy children were evaluated. Spirometry and serum IL-23 measurement (ELISA kit) were performed in all asthmatic children.IL-23 levels were higher in asthmatic than in healthy children (p0.001). There was a strong inverse relationship between FEV(1) and IL-23 (r = -0.787).This preliminary study suggests that serum IL-23 could be a suitable marker of bronchial function impairment in allergic asthmatic children.

Published
2011

12. Genotoxicity biomarkers in thalassaemic patients

Author

Ferro, Elisa, Visalli, Giuseppa, Baluce, Barbara, Civa, R., Randazzo Papa, G., LA ROSA, maria angela, D’Ascola, D. G., Piraino, B., Rigoli, Luciana Concetta, SALPIETRO DAMIANO, Carmelo, and DI PIETRO, Angela

Published
2011

13. [The role of the incidence of genetic abnormalities on the onset and on the results of the surgical repair of varicocele]

Author

Rossitto, Maurizio, Rigoli, Luciana Concetta, Procopio, Vincenzo, and Ciccolo, Antonio

Subjects
Adult, Male, Chromosomes, Human, Y, genetic abnormalities, Incidence, varicocele, Prognosis, Severity of Illness Index, Varicocele, Humans, Genetic Testing, Chromosome Deletion, Sicily, Infertility, Male
Abstract

The purpose of this study is to identify possible implications of the presence of genetic abnormalities of male infertility evaluating the suitable response to surgical repair of varicocele, comparing the clinical characteristics of infertile men with the presence or absence of genetic abnormalities.It has been evaluated the incidence of chromosomal abnormalities and microdeletions of the Y chromosome, through the use of techniques of cytogenetics and molecular biology in patients with varicocele of grade III, preoperatively submitted to physical examination and U.S. Doppler examination, and in which the seminal and hormonal parameters for the diagnosis of oligospermia didn't have meaningful differences. Six months after the surgical correction of the varicocele a comparison has been performed between the response to surgical repair between patients of group A (free of genetic defects) and patients of group B (with genetic defects) through the reevaluation of semen parameters and of the U.S. Doppler.26.6% of patients had genetic defects suggesting a significant association of genetic alterations in varicocele. Moreover in the group without genetic abnormality a better response to varicocelectomia has been observed.We found that a high percentage of examined patients showed genetic defects such as chromosomal aberrations (insertions, deletions, inversions or translocations) or Y chromosome microdeletions. As these genetic alterations are associated with infertility, genetic screening in patients with varicocele may represent a useful tool for diagnosis and prognosis of some cases of male infertility.

Published
2010

14. Survival Comparability Between Thalassemia Major Versus Thalassemia Intermedia

Author

Vitrano, Angela, primary, Calvaruso, Giuseppina, additional, Lai, Eliana, additional, Colletta, Grazia, additional, Quota, Alessandra, additional, Gerardi, Calogera, additional, Rigoli, Luciana Concetta, additional, Cuccia, Liana, additional, Gagliardotto, Francesco, additional, Filosa, Aldo, additional, Caruso, Vincenzo, additional, Argento, Crocetta, additional, Campisi, Saveria, additional, Rizzo, Michele, additional, Fidone, Carmelo, additional, Rigano, Paolo, additional, Sacco, Massimiliano, additional, Pepe, Alessia, additional, Di Maggio, Rosario, additional, Pitrolo, Lorella, additional, and Maggio, Aurelio, additional

Published
2015
Full Text
View/download PDF

29. Diagnostica molecolare della fibrosi cistica

Author

Procopio, Vincenzo, Chiara Di Bella, Amorini, Maria, Giuseppina Lo Giudice, Romeo, Petronilla, Francesca, Pugliatti, Basilia, Piraino, and Rigoli, Luciana Concetta

Published
2009

35. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome

Author

Cantagrel, V, Silhavy, Jl, Bielas, S, Swistun, D, Marsh, Se, Bertrand, J, Audollent, S, Attié Bitach, T, Holden, Kr, Dobyns, Wb, Traver, D, Al Gazali, L, Ali, Br, Lindner, Th, Caspary, T, Otto, Ea, Hildebrandt, F, Glass, Ia, Logan, Cv, Johnson, Ca, Bennett, C, Brancati, F, Grattan Smith, P, Leventer, J, Van Coster, R, Dias, K, Moco, C, Moreira, Ae Kim, C, Akiss, A, Maegawa, G, Abdel Salam GMH, Abdel Aleem, A, Zaki, Ms, Marti, I, Quijano Roy, S, de Lonlay, P, Verloes A, A., Touraine, R, Koenig, M, Lagier Tourenne, C, Messer, J, Philippi, H, Tzeli, Sk, Halldorsson, S, Johannsdottir, J, Ludvigsson, P, Magee, A, Stuart, B, Lev, D, Michelson, M, Ben Zeev, B, Fischetto, R, Gentile, M, Battaglia, Giordano, L, Boccone, L, Ruggieri, M, Bigoni, S, Ferlini, A, Donati, Ma, Procopio, E, Lapi, E, Genuardi, M, Caridi, G, Faravelli, F, Ghiggeri, G, Briuglia, Silvana, Tortorella, Gaetano, Rigoli, Luciana Concetta, SALPIETRO DAMIANO, Carmelo, D’Arrigo, S, Pantaleoni, C, Riva, D, Uziel, G, Laverda, Am, Permunian, A, Bova, S, Fazz, Ei, Sabrina, S, Battini, R, Bertini, E, Dallapiccola, B, Cilio, Mr, Di Sabato, M, Emma, F, Leuzzi, V, Parisi, P, Simonati, A, Al Tawari AA, Bastaki, L, Ahmad Aqueel, A, Jong, Mm, Koul, R, Rajab, A, Sztriha, L, Azam, M, Barbot, C, Rodriguez, B, Pascual Castroviejo, I, Eugen Boltshauser, E, Hulya, H, Comu, S, Akcakus, M, Sahin, Y, Phadke, Sr, Melick, N, Mikati, M, Nicholl, D, Hurst, J, Hennekam, Rcm, Bernes, S, Sanchez, H, Clark, Ae, Wynshaw Boris, A, Donahue, C, Sherr, Eh, Barkovich, Aj, Hahn, D., Sanger, Td, Gallager, Te, Daugherty, C, Krishnamoorthy, Ks, Sarco, D, Walsh CA, Soul, Jmckanna, T, Joanne Milisa, J, Chung, Wk, De Vivo DC, Raynes, H, Schubert, R, Seward, A, Brooks, Dg, Amy Goldstein, A, Caldwell, J, Finsecke, E, Maria, Bl, Cruse, Rp, Lotzete, Swoboda, Kj, Viskochil, Dh, Valente, Em, Woods, Cg, and Gleeson, Jg

Subjects
Cerebellum, Ataxia, TMEM67, Molecular Sequence Data, Biology, Joubert Syndrome, Joubert syndrome, Article, cilia gene ARL13B, mutation, 03 medical and health sciences, 0302 clinical medicine, Ciliogenesis, INPP5E, medicine, Genetics, Animals, Humans, Genetics(clinical), Abnormalities, Multiple, Genetic Predisposition to Disease, Cilia, Genetics (clinical), Conserved Sequence, Zebrafish, 030304 developmental biology, Neurons, 0303 health sciences, Brain Diseases, ADP-Ribosylation Factors, Cilium, Chromosome Mapping, Computational Biology, Syndrome, Mutation, medicine.disease, Cell biology, medicine.anatomical_structure, RPGRIP1L, medicine.symptom, Abnormalities, Multiple, 030217 neurology & neurosurgery
Abstract

Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the “molar tooth sign” on axial brain MRI, together with cerebellar vermis hypoplasia, ataxia, and psychomotor delay. JS is suggested to be a disorder of cilia function and is part of a spectrum of disorders involving retinal, renal, digital, oral, hepatic, and cerebral organs. We identified mutations in ARL13B in two families with the classical form of JS. ARL13B belongs to the Ras GTPase family, and in other species is required for ciliogenesis, body axis formation, and renal function. The encoded Arl13b protein was expressed in developing murine cerebellum and localized to the cilia in primary neurons. Overexpression of human wild-type but not patient mutant ARL13B rescued the Arl13b scorpion zebrafish mutant. Thus, ARL13B has an evolutionarily conserved role mediating cilia function in multiple organs.

Published
2008

43. Deferiprone Versus Deferoxamine in Thalassemia Intermedia: Results from 5-Year Long-Term Italian Multi-Center Randomized Clinical Trial

Author

Vitrano, Angela, primary, Calvaruso, Giuseppina, additional, Di Maggio, Rosario, additional, Sacco, Massimiliano, additional, Quota, Alessandra, additional, Capra, Marcello, additional, Filosa, Aldo, additional, D'Ascola, Domenico Giuseppe, additional, Fidone, Carmelo, additional, Carollo, Antonella, additional, Pitrolo, Lorella, additional, Gerardi, Calogera, additional, Colletti, Grazia, additional, Roccamo, Gaetano, additional, Romeo, Maria Antonietta, additional, Cianciulli, Paolo, additional, Lai, Maria-Eliana, additional, Rigoli, Luciana Concetta, additional, Forni, Gianluca, additional, and Maggio, Aurelio, additional

Published
2014
Full Text
View/download PDF

45. Mitochondrial 3243 BP mutation: a case report

Author

Rigoli, Luciana Concetta, Caruso, Rosario, Zuccarello, D, Rigoli, M, and Barberi, Ignazio

Subjects
Male, RNA, Transfer, Leu, mitochondrial DNA, Deafness, mitochondrial DNA, mutation, DNA, Mitochondrial, Polymerase Chain Reaction, Pedigree, Diabetes Complications, Phenotype, Italy, Mutation, Diabetes Mellitus, Humans, Female, Cardiomyopathies
Abstract

Mitochondrial DNA (mtDNA) gene defects may play a role in the development of maternally inherited diabetes mellitus and deafness (MIDD). Mutation in the mitochondrial gene at position 3243 was recently identified in several pedigrees of diabetes mellitus and deafness. As the mitochondria play an important role in glucose-stimulated insulin secretion in pancreatic beta-cells, we therefore searched for this mutation in a non-consanguineous family with MIDD from Southern Italy. The mitochondrial 3243 bp mutation of the tRNALEU (UUR) gene was identified in one subject with deafness and Type 1B diabetes mellitus and in his mother. The mother was affected by Type 2 diabetes mellitus, deafness and cardiomyopathy. Our study points out the variable phenotypic expression of this mitochondrial mutation. This may suggest the presence of other mitochondrial or nuclear mutations required to modulate the phenotype.

Published
2002

Catalog

Books, media, physical & digital resources
See catalog results